Canonical Allele Identifier: CA915949347

Gene: FA2H

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74774597_74774606del , CM000678.2:g.74774597_74774606del	GRCh38
NC_000016.9:g.74808495_74808504del , CM000678.1:g.74808495_74808504del	GRCh37
NC_000016.8:g.73365996_73366005del	NCBI36
NG_017070.1:g.5236_5245del

Transcript Alleles

HGVS	Amino-acid Change
NM_024306.5:c.160_169del MANE Select	NP_077282.3:p.Ala54ThrfsTer?
ENST00000219368.8:c.160_169del MANE Select	ENSP00000219368.3:p.Ala54ThrfsTer?
NM_024306.4:c.160_169del	NP_077282.3:p.Ala54ThrfsTer?
ENST00000219368.7:c.160_169del	ENSP00000219368.3:p.Ala54ThrfsTer?
ENST00000567683.5:c.160_169del	ENSP00000455126.1:p.Ala54ThrfsTer?
XM_011523317.1:c.160_169del	XP_011521619.1:p.Ala54ThrfsTer?
XM_011523317.3:c.160_169del	XP_011521619.1:p.Ala54ThrfsTer?
XM_011523318.1:c.160_169del	XP_011521620.1:p.Ala54ThrfsTer?